A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2

Ludwig Thierfelder, Calum MacRae, Hugh Watkins, James Tomfohrde, Michele Williams, William McKenna, Katarina Bohm, Gerhard Noeske, Martin Schlepper, Anne Bowcock, Hans Peter Vosberg, J. G. Seidman, Christine Seidman

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Abstract

We report that a gene responsible for familial hypertrophic cardiomyopathy (FHC) in a kindred with a mild degree of cardiac hypertrophy maps to chromosome 15q2. The gene encoding cardiac act in, located on chromosome 15q, was analyzed and excluded as a candidate for FHC at this locus. Two additional families with typical FHC were studied and the disorder in one also maps to the chromosome 15q2 locus. The maximum combined multipoint logarithm of odds score in the two linked families is 6.02. Although these two kindreds reside in the same country, we believe that their disorder is caused by independent mutations in the 15q2 locus because of the clinical and genotypic differences between affected individuals. Mutations in at least four loci can cause FHC: chromosomes 14q1 (β cardiac myosin heavy chain gene), 1q3, and 15q2 and another unidentified locus, suggesting substantial genetic heterogeneity.

Original languageEnglish
Pages (from-to)6270-6274
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Volume90
Issue number13
StatePublished - 1 Jul 1993
Externally publishedYes

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